Incidental Mutation 'IGL02219:Camk2b'
| ID |
285072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL02219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5926872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 497
(L497P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109813]
[ENSMUST00000109815]
[ENSMUST00000109812]
|
| AlphaFold |
P28652 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002817
|
| SMART Domains |
Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
371 |
498 |
5.3e-63 |
PFAM |
|
Pfam:DUF4440
|
375 |
489 |
2.8e-15 |
PFAM |
|
Pfam:SnoaL_3
|
375 |
500 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019133
AA Change: L497P
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: L497P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
533 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
534 |
661 |
3.7e-62 |
PFAM |
|
Pfam:DUF4440
|
538 |
652 |
1.6e-13 |
PFAM |
|
Pfam:SnoaL_3
|
538 |
663 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066431
|
| SMART Domains |
Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
347 |
474 |
4.8e-63 |
PFAM |
|
Pfam:DUF4440
|
351 |
465 |
2.6e-15 |
PFAM |
|
Pfam:SnoaL_3
|
351 |
476 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090443
AA Change: L376P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: L376P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
390 |
412 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
413 |
540 |
6.1e-63 |
PFAM |
|
Pfam:DUF4440
|
417 |
531 |
3.2e-15 |
PFAM |
|
Pfam:SnoaL_3
|
417 |
542 |
2.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093355
AA Change: L420P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: L420P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
internal_repeat_1
|
373 |
388 |
8.07e-7 |
PROSPERO |
|
low complexity region
|
391 |
414 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
416 |
431 |
8.07e-7 |
PROSPERO |
|
low complexity region
|
434 |
456 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
457 |
584 |
5.8e-63 |
PFAM |
|
Pfam:DUF4440
|
461 |
575 |
6.7e-15 |
PFAM |
|
Pfam:SnoaL_3
|
461 |
586 |
4.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101585
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
386 |
513 |
5.6e-63 |
PFAM |
|
Pfam:DUF4440
|
390 |
504 |
3e-15 |
PFAM |
|
Pfam:SnoaL_3
|
390 |
515 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101586
|
| SMART Domains |
Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
386 |
513 |
5.6e-63 |
PFAM |
|
Pfam:DUF4440
|
390 |
504 |
3e-15 |
PFAM |
|
Pfam:SnoaL_3
|
390 |
515 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109813
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
410 |
537 |
1.4e-62 |
PFAM |
|
Pfam:DUF4440
|
414 |
528 |
5.9e-15 |
PFAM |
|
Pfam:SnoaL_3
|
414 |
539 |
5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109815
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
410 |
537 |
1.4e-62 |
PFAM |
|
Pfam:DUF4440
|
414 |
528 |
5.9e-15 |
PFAM |
|
Pfam:SnoaL_3
|
414 |
539 |
5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109812
|
| SMART Domains |
Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
283 |
5.98e-95 |
SMART |
|
Pfam:CaMKII_AD
|
397 |
524 |
5.8e-63 |
PFAM |
|
Pfam:DUF4440
|
401 |
515 |
3.1e-15 |
PFAM |
|
Pfam:SnoaL_3
|
401 |
526 |
2.4e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
| Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
| Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
| Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
| Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
| Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,577,718 (GRCm39) |
N694S |
probably benign |
Het |
| Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
| Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
| Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
| Pan2 |
G |
A |
10: 128,156,221 (GRCm39) |
E1133K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
| Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
| Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
| Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,703,644 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
| Scrib |
T |
A |
15: 75,936,885 (GRCm39) |
K383* |
probably null |
Het |
| Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
| Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
| Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
| Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
| Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
probably damaging |
Het |
|
| Other mutations in Camk2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Camk2b
|
APN |
11 |
5,922,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01821:Camk2b
|
APN |
11 |
5,947,890 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02890:Camk2b
|
APN |
11 |
5,951,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1645:Camk2b
|
UTSW |
11 |
5,922,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Camk2b
|
UTSW |
11 |
5,927,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1836:Camk2b
|
UTSW |
11 |
5,922,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Camk2b
|
UTSW |
11 |
5,927,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3828:Camk2b
|
UTSW |
11 |
5,978,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4283:Camk2b
|
UTSW |
11 |
5,937,099 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5919:Camk2b
|
UTSW |
11 |
5,929,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Camk2b
|
UTSW |
11 |
5,939,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Camk2b
|
UTSW |
11 |
5,928,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Camk2b
|
UTSW |
11 |
5,942,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Camk2b
|
UTSW |
11 |
5,922,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Camk2b
|
UTSW |
11 |
5,939,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Camk2b
|
UTSW |
11 |
5,928,432 (GRCm39) |
missense |
probably benign |
|
|
R7798:Camk2b
|
UTSW |
11 |
5,928,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7818:Camk2b
|
UTSW |
11 |
5,927,812 (GRCm39) |
missense |
probably benign |
|
|
R8342:Camk2b
|
UTSW |
11 |
5,940,383 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8388:Camk2b
|
UTSW |
11 |
5,939,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Camk2b
|
UTSW |
11 |
5,922,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Camk2b
|
UTSW |
11 |
5,939,332 (GRCm39) |
nonsense |
probably null |
|
|
R9319:Camk2b
|
UTSW |
11 |
5,927,814 (GRCm39) |
missense |
probably benign |
|
|
R9493:Camk2b
|
UTSW |
11 |
5,929,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Camk2b
|
UTSW |
11 |
5,922,634 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9800:Camk2b
|
UTSW |
11 |
5,922,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF023:Camk2b
|
UTSW |
11 |
5,922,301 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Camk2b
|
UTSW |
11 |
5,927,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2015-04-16 |
Incidental Mutation